Canonical Allele Identifier: CA1075102718

Gene: NIPBL

Linked Data

• gnomAD v3: 5-36876844-C-CCCCCCCCCCCCA
• gnomAD v4: 5-36876844-C-CCCCCCCCCCCCA

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36876846_36876847insCCCCCCCCCACC , CM000667.2:g.36876846_36876847insCCCCCCCCCACC	GRCh38
NC_000005.9:g.36876948_36876949insCCCCCCCCCACC , CM000667.1:g.36876948_36876949insCCCCCCCCCACC	GRCh37
NC_000005.8:g.36912705_36912706insCCCCCCCCCACC	NCBI36
NG_006987.1:g.4964_4965insCCCCCCCCCACC
NG_006987.2:g.4964_4965insCCCCCCCCCACC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.-412_-411insCCCCCCCCCACC MANE Select	ENSP00000282516.8:n.-412_-411insCCCCCCCCCACC
ENST00000652901.1:c.-412_-411insCCCCCCCCCACC	ENSP00000499536.1:n.-412_-411insCCCCCCCCCACC
ENST00000282516.12:c.-412_-411insCCCCCCCCCACC	ENSP00000282516.8:n.-412_-411insCCCCCCCCCACC
ENST00000448238.2:c.-412_-411insCCCCCCCCCACC	ENSP00000406266.2:n.-412_-411insCCCCCCCCCACC
NM_015384.4:c.-412_-411insCCCCCCCCCACC	NP_056199.2:n.-412_-411insCCCCCCCCCACC
NM_133433.3:c.-412_-411insCCCCCCCCCACC	NP_597677.2:n.-412_-411insCCCCCCCCCACC
XM_005248280.2:c.-412_-411insCCCCCCCCCACC	XP_005248337.1:n.-412_-411insCCCCCCCCCACC
XM_006714467.2:c.-412_-411insCCCCCCCCCACC	XP_006714530.1:n.-412_-411insCCCCCCCCCACC
XM_006714468.1:c.-412_-411insCCCCCCCCCACC	XP_006714531.1:n.-412_-411insCCCCCCCCCACC
XM_011514014.1:c.-412_-411insCCCCCCCCCACC	XP_011512316.1:n.-412_-411insCCCCCCCCCACC
XM_011514015.1:c.-412_-411insCCCCCCCCCACC	XP_011512317.1:n.-412_-411insCCCCCCCCCACC
XM_005248280.3:c.-412_-411insCCCCCCCCCACC	XP_005248337.1:n.-412_-411insCCCCCCCCCACC
XM_006714468.2:c.-412_-411insCCCCCCCCCACC	XP_006714531.1:n.-412_-411insCCCCCCCCCACC
XM_017009329.1:c.-412_-411insCCCCCCCCCACC	XP_016864818.1:n.-412_-411insCCCCCCCCCACC
XM_017009331.1:c.-412_-411insCCCCCCCCCACC	XP_016864820.1:n.-412_-411insCCCCCCCCCACC
NM_133433.4:c.-412_-411insCCCCCCCCCACC MANE Select	NP_597677.2:n.-412_-411insCCCCCCCCCACC
NM_015384.5:c.-412_-411insCCCCCCCCCACC	NP_056199.2:n.-412_-411insCCCCCCCCCACC